15-68119711-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119711
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119711
    reference: chr 15
allele count: 6
allele frequency: 9.487666034155598e-5
allele num: 63240
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1428A>G
  hgvsp: ENST00000554240.1:c.1428A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1545A>G
  hgvsp: ENST00000380035.2:c.1545A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1461A>G
  hgvsp: ENST00000554054.1:c.1461A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1586-221A>G
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1413A>G
  hgvsp: ENST00000389002.1:c.1413A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20639
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7805
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14896
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6692
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 829
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9668
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala476Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

15-68119716-T-TGGCGGCGGCAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119716
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119728
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 57854
alternate allele: TGGCGGCGGCAGC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsp: ENSP00000451193.1:p.Ala484_Ala487dup
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsp: ENSP00000369374.2:p.Ala523_Ala526dup
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsp: ENSP00000373654.1:p.Ala479_Ala482dup
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsp: ENSP00000452361.1:p.Ala495_Ala498dup
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: inframe insertion
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15139
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9756
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27570
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5253
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3206
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala484_Ala487dup
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

15-68119716-TGGCGGCGGCAGC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119716
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119704
    reference: chr 15
allele count: 3
allele frequency: 5.185466864866733e-5
allele num: 57854
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsp: ENSP00000452361.1:p.Ala497_Ala500del
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsp: ENSP00000373654.1:p.Ala481_Ala484del
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsp: ENSP00000451193.1:p.Ala486_Ala489del
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsp: ENSP00000369374.2:p.Ala525_Ala528del
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9756
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19633
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 744
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ala481_Ala484del
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: TGGCGGCGGCAGC
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

15-68119717-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119717
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119717
    reference: chr 15
allele count: 1
allele frequency: 1.796686909339179e-5
allele num: 55658
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1467G>A
  hgvsp: ENST00000554054.1:c.1467G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1434G>A
  hgvsp: ENST00000554240.1:c.1434G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1551G>A
  hgvsp: ENST00000380035.2:c.1551G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1419G>A
  hgvsp: ENST00000389002.1:c.1419G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1586-215G>A
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3407
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18990
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3198
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13289
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2161
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26501
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4765
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val478Val
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

15-68119719-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119719
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119719
    reference: chr 15
allele count: 3
allele frequency: 6.961525966491854e-5
allele num: 43094
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1586-213C>T
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1436C>T
  hgvsp: ENSP00000451193.1:p.Ala479Val
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1553C>T
  hgvsp: ENSP00000369374.2:p.Ala518Val
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1469C>T
  hgvsp: ENSP00000452361.1:p.Ala490Val
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1421C>T
  hgvsp: ENSP00000373654.1:p.Ala474Val
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2855
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1607
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15179
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13305
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16092
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1453
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16806
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1563
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Ala479Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

15-68119722-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119722
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119722
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 43002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1556C>T
  hgvsp: ENSP00000369374.2:p.Ala519Val
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1439C>T
  hgvsp: ENSP00000451193.1:p.Ala480Val
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1586-210C>T
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1424C>T
  hgvsp: ENSP00000373654.1:p.Ala475Val
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1472C>T
  hgvsp: ENSP00000452361.1:p.Ala491Val
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16331
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13635
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1460
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1361
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2064
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17232
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala480Val
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

15-68119723-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119723
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119723
    reference: chr 15
allele count: 76
allele frequency: 1.758607922991485e-3
allele num: 43216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1473G>C
  hgvsp: ENST00000554054.1:c.1473G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1586-209G>C
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1557G>C
  hgvsp: ENST00000380035.2:c.1557G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1425G>C
  hgvsp: ENST00000389002.1:c.1425G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1440G>C
  hgvsp: ENST00000554240.1:c.1440G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 1.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 16426
  bin: 7.5e0
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 14927
  bin: 1.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13765
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3754
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.75e1
  variant carriers: 81
genotype quality: GenotypeQuality
  all individuals: 17426
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 579
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
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genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala480Ala
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/15-68119726-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119726
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119726
    reference: chr 15
allele count: 3
allele frequency: 7.215007215007215e-5
allele num: 41580
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1560A>C
  hgvsp: ENST00000380035.2:c.1560A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1443A>C
  hgvsp: ENST00000554240.1:c.1443A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1428A>C
  hgvsp: ENST00000389002.1:c.1428A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1476A>C
  hgvsp: ENST00000554054.1:c.1476A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1586-206A>C
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14353
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18258
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21953
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala481Ala
num of homozygotes: 1
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

15-68119726-AGCGGCGGCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119726
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119717
    reference: chr 15
allele count: 2
allele frequency: 4.81000481000481e-5
allele num: 41580
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsp: ENSP00000373654.1:p.Ala482_Ala484del
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsp: ENSP00000452361.1:p.Ala498_Ala500del
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsp: ENSP00000369374.2:p.Ala526_Ala528del
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsp: ENSP00000451193.1:p.Ala487_Ala489del
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14345
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16457
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14353
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1955
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21953
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18258
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1392
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1336
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3803
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala482_Ala484del
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: AGCGGCGGCG
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

15-68119738-AGCG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119738
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119735
    reference: chr 15
allele count: 1
allele frequency: 3.872966692486444e-5
allele num: 25820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1575_1577delGGC
  hgvsp: ENSP00000369374.2:p.Ala528del
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1586-191_1586-189delGGC
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1458_1460delGGC
  hgvsp: ENSP00000451193.1:p.Ala489del
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1443_1445delGGC
  hgvsp: ENSP00000373654.1:p.Ala484del
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1491_1493delGGC
  hgvsp: ENSP00000452361.1:p.Ala500del
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18430
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15324
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7817
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1868
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13176
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 946
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1968
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3430
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22496
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala489del
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: AGCG
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: FS

15-68119741-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119741
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119741
    reference: chr 15
allele count: 3292
allele frequency: 1.701291989664083e-1
allele num: 19350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1443G>A
  hgvsp: ENST00000389002.1:c.1443G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1491G>A
  hgvsp: ENST00000554054.1:c.1491G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1575G>A
  hgvsp: ENST00000380035.2:c.1575G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1586-191G>A
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1458G>A
  hgvsp: ENST00000554240.1:c.1458G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2117
  bin: 2.25e1
  variant carriers: 159
genotype depth: GenotypeDepth
  all individuals: 5085
  bin: 1.25e1
  variant carriers: 1745
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 1.75e1
  variant carriers: 485
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 3.25e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 4.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 12520
  bin: 7.5e0
  variant carriers: 3066
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 3.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 1367
  bin: 2.75e1
  variant carriers: 113
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 18435
  bin: 2.5e0
  variant carriers: 479
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.75e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 4.25e1
  variant carriers: 106
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.75e1
  variant carriers: 57
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.25e1
  variant carriers: 54
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 5.25e1
  variant carriers: 162
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 8.25e1
  variant carriers: 158
genotype quality: GenotypeQuality
  all individuals: 19163
  bin: 7.5e0
  variant carriers: 172
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 1.25e1
  variant carriers: 182
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 4.75e1
  variant carriers: 106
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 1.75e1
  variant carriers: 265
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 9.25e1
  variant carriers: 334
genotype quality: GenotypeQuality
  all individuals: 2342
  bin: 2.5e0
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 3.25e1
  variant carriers: 151
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.75e1
  variant carriers: 101
genotype quality: GenotypeQuality
  all individuals: 3378
  bin: 9.75e1
  variant carriers: 3378
genotype quality: GenotypeQuality
  all individuals: 7031
  bin: 2.25e1
  variant carriers: 285
hgvs: p.Ala486Ala
num of homozygotes: 204
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS

http://identifiers.org/exac.variant/15-68119744-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119744
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119744
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 16548
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1586-188A>C
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1578A>C
  hgvsp: ENST00000380035.2:c.1578A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1446A>C
  hgvsp: ENST00000389002.1:c.1446A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1494A>C
  hgvsp: ENST00000554054.1:c.1494A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1461A>C
  hgvsp: ENST00000554240.1:c.1461A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10939
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22030
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3780
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9202
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23774
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala487Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD

15-68119759-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119759
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119759
    reference: chr 15
allele count: 3
allele frequency: 2.291125706430426e-4
allele num: 13094
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1509T>C
  hgvsp: ENST00000554054.1:c.1509T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1593T>C
  hgvsp: ENST00000380035.2:c.1593T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1586-173T>C
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1461T>C
  hgvsp: ENST00000389002.1:c.1461T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1476T>C
  hgvsp: ENST00000554240.1:c.1476T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20964
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7251
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21557
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3645
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly492Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ

15-68119770-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119770
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119770
    reference: chr 15
allele count: 1
allele frequency: 8.616232982939858e-5
allele num: 11606
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1487C>T
  hgvsp: ENSP00000451193.1:p.Pro496Leu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1604C>T
  hgvsp: ENSP00000369374.2:p.Pro535Leu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1520C>T
  hgvsp: ENSP00000452361.1:p.Pro507Leu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1586-162C>T
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1472C>T
  hgvsp: ENSP00000373654.1:p.Pro491Leu
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18967
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3790
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 19235
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 15
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 795
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro496Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

15-68119784-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119784
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119784
    reference: chr 15
allele count: 1
allele frequency: 9.494872768704899e-5
allele num: 10532
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1486G>A
  hgvsp: ENSP00000373654.1:p.Glu496Lys
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1534G>A
  hgvsp: ENSP00000452361.1:p.Glu512Lys
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1618G>A
  hgvsp: ENSP00000369374.2:p.Glu540Lys
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1586-148G>A
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1501G>A
  hgvsp: ENSP00000451193.1:p.Glu501Lys
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15925
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1739
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genotype quality: GenotypeQuality
  all individuals: 71
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 871
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genotype quality: GenotypeQuality
  all individuals: 3988
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genotype quality: GenotypeQuality
  all individuals: 4
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Glu501Lys
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

15-68119816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119816
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119816
    reference: chr 15
allele count: 2
allele frequency: 1.987676406281057e-4
allele num: 10062
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1566G>A
  hgvsp: ENST00000554054.1:c.1566G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1650G>A
  hgvsp: ENST00000380035.2:c.1650G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1586-116G>A
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1533G>A
  hgvsp: ENST00000554240.1:c.1533G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1518G>A
  hgvsp: ENST00000389002.1:c.1518G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7040
  bin: 2.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6464
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu511Glu
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP

15-68119820-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119820
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119820
    reference: chr 15
allele count: 1
allele frequency: 9.962143853357243e-5
allele num: 10038
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1522C>T
  hgvsp: ENSP00000373654.1:p.Arg508Cys
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1570C>T
  hgvsp: ENSP00000452361.1:p.Arg524Cys
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1586-112C>T
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1654C>T
  hgvsp: ENSP00000369374.2:p.Arg552Cys
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1537C>T
  hgvsp: ENSP00000451193.1:p.Arg513Cys
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1697
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 669
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5571
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3880
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg513Cys
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

15-68119823-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119823
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119823
    reference: chr 15
allele count: 1
allele frequency: 9.972078181092939e-5
allele num: 10028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1573T>A
  hgvsp: ENSP00000452361.1:p.Cys525Ser
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1540T>A
  hgvsp: ENSP00000451193.1:p.Cys514Ser
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1525T>A
  hgvsp: ENSP00000373654.1:p.Cys509Ser
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1657T>A
  hgvsp: ENSP00000369374.2:p.Cys553Ser
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1586-109T>A
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5556
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4901
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3886
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Cys514Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

15-68119851-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119851
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119851
    reference: chr 15
allele count: 1
allele frequency: 1.024380249948781e-4
allele num: 9762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1685T>C
  hgvsp: ENSP00000369374.2:p.Leu562Pro
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1568T>C
  hgvsp: ENSP00000451193.1:p.Leu523Pro
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1553T>C
  hgvsp: ENSP00000373654.1:p.Leu518Pro
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1601T>C
  hgvsp: ENSP00000452361.1:p.Leu534Pro
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1586-81T>C
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2022
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu523Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD

15-68119875-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119875
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119875
    reference: chr 15
allele count: 1
allele frequency: 1.103752759381898e-4
allele num: 9060
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1577C>G
  hgvsp: ENSP00000373654.1:p.Ala526Gly
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1625C>G
  hgvsp: ENSP00000452361.1:p.Ala542Gly
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1586-57C>G
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1709C>G
  hgvsp: ENSP00000369374.2:p.Ala570Gly
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1592C>G
  hgvsp: ENSP00000451193.1:p.Ala531Gly
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2857
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1310
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala531Gly
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/15-68119901-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119901
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119901
    reference: chr 15
allele count: 1
allele frequency: 1.210946960523129e-4
allele num: 8258
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1586-31C>A
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1618C>A
  hgvsp: ENSP00000451193.1:p.Pro540Thr
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1603C>A
  hgvsp: ENSP00000373654.1:p.Pro535Thr
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1735C>A
  hgvsp: ENSP00000369374.2:p.Pro579Thr
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1651C>A
  hgvsp: ENSP00000452361.1:p.Pro551Thr
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1074
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 342
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 903
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro540Thr
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

15-68119906-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119906
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119906
    reference: chr 15
allele count: 3
allele frequency: 3.480278422273782e-4
allele num: 8620
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1608G>A
  hgvsp: ENST00000389002.1:c.1608G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1586-26G>A
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1740G>A
  hgvsp: ENST00000380035.2:c.1740G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1656G>A
  hgvsp: ENST00000554054.1:c.1656G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1623G>A
  hgvsp: ENST00000554240.1:c.1623G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4606
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4013
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro541Pro
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP

15-68119956-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119956
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119956
    reference: chr 15
allele count: 1
allele frequency: 1.082251082251082e-4
allele num: 9240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1706C>T
  hgvsp: ENSP00000452361.1:p.Pro569Leu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1673C>T
  hgvsp: ENSP00000451193.1:p.Pro558Leu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1790C>T
  hgvsp: ENSP00000369374.2:p.Pro597Leu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1610C>T
  hgvsp: ENSP00000343200.5:p.Pro537Leu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1658C>T
  hgvsp: ENSP00000373654.1:p.Pro553Leu
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1243
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1432
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9476
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8517
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3435
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro537Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

15-68119967-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119967
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119967
    reference: chr 15
allele count: 1
allele frequency: 1.079680414597279e-4
allele num: 9262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1669G>A
  hgvsp: ENSP00000373654.1:p.Asp557Asn
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1684G>A
  hgvsp: ENSP00000451193.1:p.Asp562Asn
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1801G>A
  hgvsp: ENSP00000369374.2:p.Asp601Asn
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1621G>A
  hgvsp: ENSP00000343200.5:p.Asp541Asn
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1717G>A
  hgvsp: ENSP00000452361.1:p.Asp573Asn
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2102
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10722
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3112
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9561
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp541Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/15-68119972-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119972
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119972
    reference: chr 15
allele count: 1
allele frequency: 1.088139281828074e-4
allele num: 9190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1722C>A
  hgvsp: ENST00000554054.1:c.1722C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1689C>A
  hgvsp: ENST00000554240.1:c.1689C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1674C>A
  hgvsp: ENST00000389002.1:c.1674C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1806C>A
  hgvsp: ENST00000380035.2:c.1806C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1626C>A
  hgvsp: ENST00000341418.5:c.1626C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11527
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 1258
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 10288
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr542Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

15-68119981-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68119981
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68119981
    reference: chr 15
allele count: 2
allele frequency: 2.195389681668496e-4
allele num: 9110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1683C>T
  hgvsp: ENST00000389002.1:c.1683C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1815C>T
  hgvsp: ENST00000380035.2:c.1815C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1635C>T
  hgvsp: ENST00000341418.5:c.1635C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1698C>T
  hgvsp: ENST00000554240.1:c.1698C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1731C>T
  hgvsp: ENST00000554054.1:c.1731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13026
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 398
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 1303
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 11767
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile545Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

15-68120001-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120001
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120001
    reference: chr 15
allele count: 1
allele frequency: 1.180358829084042e-4
allele num: 8472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1835C>T
  hgvsp: ENSP00000369374.2:p.Ala612Val
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1703C>T
  hgvsp: ENSP00000373654.1:p.Ala568Val
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1655C>T
  hgvsp: ENSP00000343200.5:p.Ala552Val
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1718C>T
  hgvsp: ENSP00000451193.1:p.Ala573Val
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1751C>T
  hgvsp: ENSP00000452361.1:p.Ala584Val
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16810
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14898
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala552Val
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

15-68120014-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120014
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120014
    reference: chr 15
allele count: 998
allele frequency: 1.177442189712128e-1
allele num: 8476
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1668C>T
  hgvsp: ENST00000341418.5:c.1668C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1848C>T
  hgvsp: ENST00000380035.2:c.1848C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1764C>T
  hgvsp: ENST00000554054.1:c.1764C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1731C>T
  hgvsp: ENST00000554240.1:c.1731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1716C>T
  hgvsp: ENST00000389002.1:c.1716C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2479
  bin: 7.5e0
  variant carriers: 334
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19154
  bin: 2.5e0
  variant carriers: 378
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 3.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 2.75e1
  variant carriers: 74
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 1.25e1
  variant carriers: 347
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 1.75e1
  variant carriers: 302
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 2.25e1
  variant carriers: 173
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 2.75e1
  variant carriers: 86
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 745
  bin: 6.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 3535
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 3.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 3.75e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 7.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 1.25e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 2.25e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 1.75e1
  variant carriers: 60
hgvs: p.Tyr556Tyr
num of homozygotes: 52
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

15-68120031-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120031
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120031
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 8716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1865G>C
  hgvsp: ENSP00000369374.2:p.Arg622Pro
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1781G>C
  hgvsp: ENSP00000452361.1:p.Arg594Pro
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1733G>C
  hgvsp: ENSP00000373654.1:p.Arg578Pro
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1748G>C
  hgvsp: ENSP00000451193.1:p.Arg583Pro
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1685G>C
  hgvsp: ENSP00000343200.5:p.Arg562Pro
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27089
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2334
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24774
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3101
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg562Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

15-68120045-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120045
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120045
    reference: chr 15
allele count: 2
allele frequency: 2.135383301302584e-4
allele num: 9366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1747G>A
  hgvsp: ENSP00000373654.1:p.Gly583Ser
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1699G>A
  hgvsp: ENSP00000343200.5:p.Gly567Ser
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1879G>A
  hgvsp: ENSP00000369374.2:p.Gly627Ser
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1795G>A
  hgvsp: ENSP00000452361.1:p.Gly599Ser
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1762G>A
  hgvsp: ENSP00000451193.1:p.Gly588Ser
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3597
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1906
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31590
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1667
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29404
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly567Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

15-68120057-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120057
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120057
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 10010
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1711G>A
  hgvsp: ENSP00000343200.5:p.Gly571Ser
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1759G>A
  hgvsp: ENSP00000373654.1:p.Gly587Ser
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1891G>A
  hgvsp: ENSP00000369374.2:p.Gly631Ser
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1807G>A
  hgvsp: ENSP00000452361.1:p.Gly603Ser
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1774G>A
  hgvsp: ENSP00000451193.1:p.Gly592Ser
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32101
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2010
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27448
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4872
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly571Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

15-68120066-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120066
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120066
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 11106
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1720G>C
  hgvsp: ENSP00000343200.5:p.Val574Leu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1783G>C
  hgvsp: ENSP00000451193.1:p.Val595Leu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1816G>C
  hgvsp: ENSP00000452361.1:p.Val606Leu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1768G>C
  hgvsp: ENSP00000373654.1:p.Val590Leu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1900G>C
  hgvsp: ENSP00000369374.2:p.Val634Leu
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34837
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1392
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4799
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4128
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 676
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val574Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

15-68120086-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120086
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120086
    reference: chr 15
allele count: 1
allele frequency: 7.504127269998499e-5
allele num: 13326
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1740C>T
  hgvsp: ENST00000341418.5:c.1740C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1803C>T
  hgvsp: ENST00000554240.1:c.1803C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1920C>T
  hgvsp: ENST00000380035.2:c.1920C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1788C>T
  hgvsp: ENST00000389002.1:c.1788C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1836C>T
  hgvsp: ENST00000554054.1:c.1836C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36479
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8812
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34220
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2027
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7227
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser580Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum

15-68120102-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120102
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120102
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 15598
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1936T>C
  hgvsp: ENSP00000369374.2:p.Tyr646His
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1852T>C
  hgvsp: ENSP00000452361.1:p.Tyr618His
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1819T>C
  hgvsp: ENSP00000451193.1:p.Tyr607His
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1756T>C
  hgvsp: ENSP00000343200.5:p.Tyr586His
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1804T>C
  hgvsp: ENSP00000373654.1:p.Tyr602His
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15600
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32701
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5246
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31223
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13091
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr586His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
reference allele: T
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

15-68120122-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120122
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120122
    reference: chr 15
allele count: 9
allele frequency: 4.810261892036344e-4
allele num: 18710
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1776C>T
  hgvsp: ENST00000341418.5:c.1776C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1824C>T
  hgvsp: ENST00000389002.1:c.1824C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1956C>T
  hgvsp: ENST00000380035.2:c.1956C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1872C>T
  hgvsp: ENST00000554054.1:c.1872C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1839C>T
  hgvsp: ENST00000554240.1:c.1839C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25881
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23180
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2070
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 1.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22846
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6820
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22456
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp592Asp
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum

15-68120130-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120130
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120130
    reference: chr 15
allele count: 18
allele frequency: 8.860011813349084e-4
allele num: 20316
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1784C>T
  hgvsp: ENSP00000343200.5:p.Thr595Ile
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1880C>T
  hgvsp: ENSP00000452361.1:p.Thr627Ile
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1964C>T
  hgvsp: ENSP00000369374.2:p.Thr655Ile
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1832C>T
  hgvsp: ENSP00000373654.1:p.Thr611Ile
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1847C>T
  hgvsp: ENSP00000451193.1:p.Thr616Ile
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5714
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28434
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19475
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2554
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24955
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 808
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr595Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

15-68120156-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120156
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120156
    reference: chr 15
allele count: 2
allele frequency: 6.749004521833029e-5
allele num: 29634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1858G>A
  hgvsp: ENSP00000373654.1:p.Glu620Lys
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.1990G>A
  hgvsp: ENSP00000369374.2:p.Glu664Lys
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1873G>A
  hgvsp: ENSP00000451193.1:p.Glu625Lys
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1810G>A
  hgvsp: ENSP00000343200.5:p.Glu604Lys
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1906G>A
  hgvsp: ENSP00000452361.1:p.Glu636Lys
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33815
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10752
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7920
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31803
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8993
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Glu604Lys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

15-68120166-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120166
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120166
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 33558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1868G>A
  hgvsp: ENSP00000373654.1:p.Arg623His
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2000G>A
  hgvsp: ENSP00000369374.2:p.Arg667His
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1883G>A
  hgvsp: ENSP00000451193.1:p.Arg628His
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1820G>A
  hgvsp: ENSP00000343200.5:p.Arg607His
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1916G>A
  hgvsp: ENSP00000452361.1:p.Arg639His
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33881
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8753
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9254
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32485
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8563
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg607His
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

15-68120170-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120170
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120170
    reference: chr 15
allele count: 1
allele frequency: 2.820397111913358e-5
allele num: 35456
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1824C>T
  hgvsp: ENST00000341418.5:c.1824C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2004C>T
  hgvsp: ENST00000380035.2:c.2004C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1887C>T
  hgvsp: ENST00000554240.1:c.1887C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1872C>T
  hgvsp: ENST00000389002.1:c.1872C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1920C>T
  hgvsp: ENST00000554054.1:c.1920C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33622
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8099
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32460
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7941
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1718
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11009
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Phe608Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

15-68120177-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120177
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120177
    reference: chr 15
allele count: 7
allele frequency: 1.773858395418377e-4
allele num: 39462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1927G>A
  hgvsp: ENSP00000452361.1:p.Asp643Asn
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1831G>A
  hgvsp: ENSP00000343200.5:p.Asp611Asn
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2011G>A
  hgvsp: ENSP00000369374.2:p.Asp671Asn
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1879G>A
  hgvsp: ENSP00000373654.1:p.Asp627Asn
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1894G>A
  hgvsp: ENSP00000451193.1:p.Asp632Asn
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4421
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2576
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32693
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12755
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1211
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7043
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp611Asn
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

15-68120182-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120182
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120182
    reference: chr 15
allele count: 1
allele frequency: 2.388458966274959e-5
allele num: 41868
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1899G>C
  hgvsp: ENSP00000451193.1:p.Glu633Asp
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1836G>C
  hgvsp: ENSP00000343200.5:p.Glu612Asp
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1884G>C
  hgvsp: ENSP00000373654.1:p.Glu628Asp
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2016G>C
  hgvsp: ENSP00000369374.2:p.Glu672Asp
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1932G>C
  hgvsp: ENSP00000452361.1:p.Glu644Asp
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4491
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12410
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6689
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31523
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6593
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
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genotype quality: GenotypeQuality
  all individuals: 369
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genotype quality: GenotypeQuality
  all individuals: 13211
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genotype quality: GenotypeQuality
  all individuals: 1564
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genotype quality: GenotypeQuality
  all individuals: 311
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu612Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD

15-68120186-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120186
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120186
    reference: chr 15
allele count: 1
allele frequency: 2.312780424626486e-5
allele num: 43238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2020G>A
  hgvsp: ENSP00000369374.2:p.Ala674Thr
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1888G>A
  hgvsp: ENSP00000373654.1:p.Ala630Thr
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1936G>A
  hgvsp: ENSP00000452361.1:p.Ala646Thr
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1840G>A
  hgvsp: ENSP00000343200.5:p.Ala614Thr
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1903G>A
  hgvsp: ENSP00000451193.1:p.Ala635Thr
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12843
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4611
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6402
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 37
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genotype quality: GenotypeQuality
  all individuals: 31150
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 797
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genotype quality: GenotypeQuality
  all individuals: 13617
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 169
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Ala614Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

15-68120189-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120189
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120189
    reference: chr 15
allele count: 1
allele frequency: 2.240243738518751e-5
allele num: 44638
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1906C>G
  hgvsp: ENSP00000451193.1:p.Gln636Glu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1843C>G
  hgvsp: ENSP00000343200.5:p.Gln615Glu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2023C>G
  hgvsp: ENSP00000369374.2:p.Gln675Glu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1891C>G
  hgvsp: ENSP00000373654.1:p.Gln631Glu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1939C>G
  hgvsp: ENSP00000452361.1:p.Gln647Glu
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6278
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1428
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13264
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30957
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1523
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30790
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6224
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13984
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln615Glu
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/15-68120199-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120199
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120199
    reference: chr 15
allele count: 1
allele frequency: 2.129471890971039e-5
allele num: 46960
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1853C>A
  hgvsp: ENSP00000343200.5:p.Thr618Asn
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1916C>A
  hgvsp: ENSP00000451193.1:p.Thr639Asn
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2033C>A
  hgvsp: ENSP00000369374.2:p.Thr678Asn
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1901C>A
  hgvsp: ENSP00000373654.1:p.Thr634Asn
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1949C>A
  hgvsp: ENSP00000452361.1:p.Thr650Asn
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6041
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14655
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6015
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr618Asn
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

15-68120201-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120201
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120201
    reference: chr 15
allele count: 5
allele frequency: 1.050552590662689e-4
allele num: 47594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1951G>A
  hgvsp: ENSP00000452361.1:p.Glu651Lys
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1918G>A
  hgvsp: ENSP00000451193.1:p.Glu640Lys
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2035G>A
  hgvsp: ENSP00000369374.2:p.Glu679Lys
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1903G>A
  hgvsp: ENSP00000373654.1:p.Glu635Lys
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1855G>A
  hgvsp: ENSP00000343200.5:p.Glu619Lys
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29832
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14221
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5944
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30477
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 2.75e1
  variant carriers: 1
hgvs: p.Glu619Lys
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

15-68120201-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120201
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120201
    reference: chr 15
allele count: 4
allele frequency: 8.404420725301508e-5
allele num: 47594
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1951G>C
  hgvsp: ENSP00000452361.1:p.Glu651Gln
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2035G>C
  hgvsp: ENSP00000369374.2:p.Glu679Gln
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1918G>C
  hgvsp: ENSP00000451193.1:p.Glu640Gln
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1903G>C
  hgvsp: ENSP00000373654.1:p.Glu635Gln
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1855G>C
  hgvsp: ENSP00000343200.5:p.Glu619Gln
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4946
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14221
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3028
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29832
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15374
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 807
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 660
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
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genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 353
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genotype quality: GenotypeQuality
  all individuals: 129
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 5944
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30477
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu619Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

15-68120202-A-AGCCCAGCGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120202
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120211
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 47990
alternate allele: AGCCCAGCGC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsp: ENSP00000452361.1:p.Pro652_Ala654dup
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsp: ENSP00000451193.1:p.Pro641_Ala643dup
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsp: ENSP00000373654.1:p.Pro636_Ala638dup
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsp: ENSP00000369374.2:p.Pro680_Ala682dup
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsp: ENSP00000343200.5:p.Pro620_Ala622dup
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: inframe insertion
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29772
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14210
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1212
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5934
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15379
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro620_Ala622dup
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

15-68120203-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120203
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120203
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 48178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1905G>A
  hgvsp: ENST00000389002.1:c.1905G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1857G>A
  hgvsp: ENST00000341418.5:c.1857G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1953G>A
  hgvsp: ENST00000554054.1:c.1953G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1920G>A
  hgvsp: ENST00000554240.1:c.1920G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2037G>A
  hgvsp: ENST00000380035.2:c.2037G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: synonymous
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 14334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30473
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5934
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15718
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu619Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum

15-68120203-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120203
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120203
    reference: chr 15
allele count: 6
allele frequency: 1.24538170949396e-4
allele num: 48178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2037G>C
  hgvsp: ENSP00000369374.2:p.Glu679Asp
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1920G>C
  hgvsp: ENSP00000451193.1:p.Glu640Asp
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1953G>C
  hgvsp: ENSP00000452361.1:p.Glu651Asp
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1857G>C
  hgvsp: ENSP00000343200.5:p.Glu619Asp
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1905G>C
  hgvsp: ENSP00000373654.1:p.Glu635Asp
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14334
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29576
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5934
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu619Asp
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

15-68120203-GCCCAGCGCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120203
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120194
    reference: chr 15
allele count: 1
allele frequency: 2.075636182489933e-5
allele num: 48178
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsp: ENSP00000343200.5:p.Pro623_Ala625del
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsp: ENSP00000451193.1:p.Pro644_Ala646del
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsp: ENSP00000373654.1:p.Pro639_Ala641del
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsp: ENSP00000369374.2:p.Pro683_Ala685del
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsp: ENSP00000452361.1:p.Pro655_Ala657del
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29576
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5016
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5934
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15718
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30473
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro623_Ala625del
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: GCCCAGCGCA
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

15-68120205-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120205
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120205
    reference: chr 15
allele count: 14
allele frequency: 2.955581827394021e-4
allele num: 47368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1955C>T
  hgvsp: ENSP00000452361.1:p.Pro652Leu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2039C>T
  hgvsp: ENSP00000369374.2:p.Pro680Leu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1922C>T
  hgvsp: ENSP00000451193.1:p.Pro641Leu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1859C>T
  hgvsp: ENSP00000343200.5:p.Pro620Leu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1907C>T
  hgvsp: ENSP00000373654.1:p.Pro636Leu
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29379
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5493
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1066
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12909
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1251
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro620Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP

15-68120210-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120210
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120210
    reference: chr 15
allele count: 1
allele frequency: 2.073656270736563e-5
allele num: 48224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2044G>A
  hgvsp: ENSP00000369374.2:p.Ala682Thr
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1927G>A
  hgvsp: ENSP00000451193.1:p.Ala643Thr
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1912G>A
  hgvsp: ENSP00000373654.1:p.Ala638Thr
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1960G>A
  hgvsp: ENSP00000452361.1:p.Ala654Thr
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1864G>A
  hgvsp: ENSP00000343200.5:p.Ala622Thr
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13373
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14505
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29887
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala622Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

15-68120210-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120210
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120210
    reference: chr 15
allele count: 1
allele frequency: 2.073656270736563e-5
allele num: 48224
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1912G>T
  hgvsp: ENSP00000373654.1:p.Ala638Ser
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1960G>T
  hgvsp: ENSP00000452361.1:p.Ala654Ser
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1927G>T
  hgvsp: ENSP00000451193.1:p.Ala643Ser
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2044G>T
  hgvsp: ENSP00000369374.2:p.Ala682Ser
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1864G>T
  hgvsp: ENSP00000343200.5:p.Ala622Ser
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13373
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29887
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6148
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala622Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD

15-68120212-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120212
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120212
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 48830
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2046A>G
  hgvsp: ENST00000380035.2:c.2046A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1914A>G
  hgvsp: ENST00000389002.1:c.1914A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1929A>G
  hgvsp: ENST00000554240.1:c.1929A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1962A>G
  hgvsp: ENST00000554054.1:c.1962A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1866A>G
  hgvsp: ENST00000341418.5:c.1866A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29038
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30106
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala622Ala
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

15-68120215-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120215
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120215
    reference: chr 15
allele count: 2
allele frequency: 4.090146836271422e-5
allele num: 48898
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1932C>G
  hgvsp: ENST00000554240.1:c.1932C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1869C>G
  hgvsp: ENST00000341418.5:c.1869C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1965C>G
  hgvsp: ENST00000554054.1:c.1965C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1917C>G
  hgvsp: ENST00000389002.1:c.1917C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2049C>G
  hgvsp: ENST00000380035.2:c.2049C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28931
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5769
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1859
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 730
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro623Pro
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

15-68120218-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120218
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120218
    reference: chr 15
allele count: 1
allele frequency: 2.065688907250568e-5
allele num: 48410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1935C>T
  hgvsp: ENST00000554240.1:c.1935C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1920C>T
  hgvsp: ENST00000389002.1:c.1920C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2052C>T
  hgvsp: ENST00000380035.2:c.2052C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1968C>T
  hgvsp: ENST00000554054.1:c.1968C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1872C>T
  hgvsp: ENST00000341418.5:c.1872C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6023
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2067
  bin: 1.75e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 771
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 980
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 403
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
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genotype quality: GenotypeQuality
  all individuals: 29660
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1848
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genotype quality: GenotypeQuality
  all individuals: 13686
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser624Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/15-68120221-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120221
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120221
    reference: chr 15
allele count: 1
allele frequency: 2.062025734081161e-5
allele num: 48496
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1875A>C
  hgvsp: ENST00000341418.5:c.1875A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2055A>C
  hgvsp: ENST00000380035.2:c.2055A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1971A>C
  hgvsp: ENST00000554054.1:c.1971A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1923A>C
  hgvsp: ENST00000389002.1:c.1923A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1938A>C
  hgvsp: ENST00000554240.1:c.1938A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6394
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6115
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1255
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 747
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 6409
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genotype quality: GenotypeQuality
  all individuals: 630
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1273
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1676
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala625Ala
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

15-68120222-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120222
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120222
    reference: chr 15
allele count: 2
allele frequency: 4.120313143798929e-5
allele num: 48540
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1972G>C
  hgvsp: ENSP00000452361.1:p.Gly658Arg
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1924G>C
  hgvsp: ENSP00000373654.1:p.Gly642Arg
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2056G>C
  hgvsp: ENSP00000369374.2:p.Gly686Arg
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1876G>C
  hgvsp: ENSP00000343200.5:p.Gly626Arg
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1939G>C
  hgvsp: ENSP00000451193.1:p.Gly647Arg
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12763
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
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genotype quality: GenotypeQuality
  all individuals: 946
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13855
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 6465
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genotype quality: GenotypeQuality
  all individuals: 29918
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Gly626Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

15-68120229-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120229
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120229
    reference: chr 15
allele count: 1
allele frequency: 2.065432914738929e-5
allele num: 48416
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1931G>A
  hgvsp: ENSP00000373654.1:p.Gly644Asp
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2063G>A
  hgvsp: ENSP00000369374.2:p.Gly688Asp
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1979G>A
  hgvsp: ENSP00000452361.1:p.Gly660Asp
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1883G>A
  hgvsp: ENSP00000343200.5:p.Gly628Asp
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1946G>A
  hgvsp: ENSP00000451193.1:p.Gly649Asp
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28386
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6722
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3360
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 803
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13626
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30005
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6736
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 884
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly628Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

15-68120230-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120230
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120230
    reference: chr 15
allele count: 1
allele frequency: 2.057951926243003e-5
allele num: 48592
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2064C>T
  hgvsp: ENST00000380035.2:c.2064C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1980C>T
  hgvsp: ENST00000554054.1:c.1980C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1932C>T
  hgvsp: ENST00000389002.1:c.1932C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1884C>T
  hgvsp: ENST00000341418.5:c.1884C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1947C>T
  hgvsp: ENST00000554240.1:c.1947C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6766
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1801
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28330
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30214
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 6802
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 372
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 674
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genotype quality: GenotypeQuality
  all individuals: 154
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genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly628Gly
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS

http://identifiers.org/exac.variant/15-68120231-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120231
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120231
    reference: chr 15
allele count: 1
allele frequency: 2.050861361771944e-5
allele num: 48760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2065C>A
  hgvsp: ENSP00000369374.2:p.Pro689Thr
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1948C>A
  hgvsp: ENSP00000451193.1:p.Pro650Thr
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1933C>A
  hgvsp: ENSP00000373654.1:p.Pro645Thr
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1885C>A
  hgvsp: ENSP00000343200.5:p.Pro629Thr
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1981C>A
  hgvsp: ENSP00000452361.1:p.Pro661Thr
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1653
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12643
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30414
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 654
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
  all individuals: 25
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14099
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 6803
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1243
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro629Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ

15-68120232-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120232
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120232
    reference: chr 15
allele count: 1
allele frequency: 2.054062936488374e-5
allele num: 48684
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1886C>T
  hgvsp: ENSP00000343200.5:p.Pro629Leu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1949C>T
  hgvsp: ENSP00000451193.1:p.Pro650Leu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1934C>T
  hgvsp: ENSP00000373654.1:p.Pro645Leu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2066C>T
  hgvsp: ENSP00000369374.2:p.Pro689Leu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1982C>T
  hgvsp: ENSP00000452361.1:p.Pro661Leu
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3408
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6827
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6682
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1256
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genotype quality: GenotypeQuality
  all individuals: 6864
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 743
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 14044
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 636
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 453
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro629Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

15-68120233-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120233
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120233
    reference: chr 15
allele count: 29
allele frequency: 5.942135890500778e-4
allele num: 48804
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1950A>T
  hgvsp: ENST00000554240.1:c.1950A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2067A>T
  hgvsp: ENST00000380035.2:c.2067A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1935A>T
  hgvsp: ENST00000389002.1:c.1935A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1983A>T
  hgvsp: ENST00000554054.1:c.1983A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1887A>T
  hgvsp: ENST00000341418.5:c.1887A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/21326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6866
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3401
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6747
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28252
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12623
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30688
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6909
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 1.25e1
  variant carriers: 1
hgvs: p.Pro629Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

15-68120243-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120243
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120243
    reference: chr 15
allele count: 1
allele frequency: 2.126211940806259e-5
allele num: 47032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2077C>G
  hgvsp: ENSP00000369374.2:p.Gln693Glu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1891+6C>G
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1960C>G
  hgvsp: ENSP00000451193.1:p.Gln654Glu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1993C>G
  hgvsp: ENSP00000452361.1:p.Gln665Glu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1945C>G
  hgvsp: ENSP00000373654.1:p.Gln649Glu
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7958
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7949
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1210
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8059
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31395
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln654Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD

15-68120244-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120244
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120244
    reference: chr 15
allele count: 1
allele frequency: 2.146199081426793e-5
allele num: 46594
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2078A>G
  hgvsp: ENSP00000369374.2:p.Gln693Arg
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1961A>G
  hgvsp: ENSP00000451193.1:p.Gln654Arg
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1946A>G
  hgvsp: ENSP00000373654.1:p.Gln649Arg
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1891+7A>G
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1994A>G
  hgvsp: ENSP00000452361.1:p.Gln665Arg
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8202
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3189
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31383
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genotype quality: GenotypeQuality
  all individuals: 889
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gln654Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

15-68120246-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120246
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120246
    reference: chr 15
allele count: 1
allele frequency: 2.20740806145424e-5
allele num: 45302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.1996C>T
  hgvsp: ENSP00000452361.1:p.Pro666Ser
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1948C>T
  hgvsp: ENSP00000373654.1:p.Pro650Ser
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2080C>T
  hgvsp: ENSP00000369374.2:p.Pro694Ser
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1891+9C>T
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1963C>T
  hgvsp: ENSP00000451193.1:p.Pro655Ser
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9000
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8827
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1897
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1246
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9131
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro655Ser
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

15-68120256-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120256
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120256
    reference: chr 15
allele count: 1
allele frequency: 2.342249496416358e-5
allele num: 42694
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2090C>T
  hgvsp: ENSP00000369374.2:p.Pro697Leu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.2006C>T
  hgvsp: ENSP00000452361.1:p.Pro669Leu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1891+19C>T
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1958C>T
  hgvsp: ENSP00000373654.1:p.Pro653Leu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1973C>T
  hgvsp: ENSP00000451193.1:p.Pro658Leu
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9717
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10952
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26449
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7699
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11139
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30937
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro658Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/15-68120258-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120258
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120258
    reference: chr 15
allele count: 5
allele frequency: 1.200595495365701e-4
allele num: 41646
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.2008C>A
  hgvsp: ENSP00000452361.1:p.Pro670Thr
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1960C>A
  hgvsp: ENSP00000373654.1:p.Pro654Thr
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1891+21C>A
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2092C>A
  hgvsp: ENSP00000369374.2:p.Pro698Thr
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1975C>A
  hgvsp: ENSP00000451193.1:p.Pro659Thr
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11738
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9981
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1897
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1254
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11920
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 8.25e1
  variant carriers: 1
hgvs: p.Pro659Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: BaseQRankSum

15-68120267-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120267
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120267
    reference: chr 15
allele count: 1
allele frequency: 2.623570154265925e-5
allele num: 38116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1984A>G
  hgvsp: ENSP00000451193.1:p.Thr662Ala
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2101A>G
  hgvsp: ENSP00000369374.2:p.Thr701Ala
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.2017A>G
  hgvsp: ENSP00000452361.1:p.Thr673Ala
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1969A>G
  hgvsp: ENSP00000373654.1:p.Thr657Ala
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1891+30A>G
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13764
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5643
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24572
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10829
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6733
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28427
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1503
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr662Ala
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

15-68120277-G-GCGCGGACGGTCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120277
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120289
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 35458
alternate allele: GCGCGGACGGTCC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsp: ENSP00000369374.2:p.Asp706_Ala709dup
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsp: ENSP00000373654.1:p.Asp662_Ala665dup
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsp: ENSP00000452361.1:p.Asp678_Ala681dup
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsp: ENSP00000451193.1:p.Asp667_Ala670dup
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: inframe insertion
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 22668
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16996
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5296
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17674
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27623
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 928
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp667_Ala670dup
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

15-68120279-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120279
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120279
    reference: chr 15
allele count: 1
allele frequency: 2.877366634056512e-5
allele num: 34754
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1891+42G>A
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.2029G>A
  hgvsp: ENSP00000452361.1:p.Ala677Thr
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1981G>A
  hgvsp: ENSP00000373654.1:p.Ala661Thr
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.1996G>A
  hgvsp: ENSP00000451193.1:p.Ala666Thr
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2113G>A
  hgvsp: ENSP00000369374.2:p.Ala705Thr
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17528
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10528
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1466
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 927
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5075
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18370
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala666Thr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/15-68120284-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120284
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120284
    reference: chr 15
allele count: 20
allele frequency: 6.045218232378189e-4
allele num: 33084
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1891+47C>A
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.2034C>A
  hgvsp: ENSP00000452361.1:p.Asp678Glu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2118C>A
  hgvsp: ENSP00000369374.2:p.Asp706Glu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.2001C>A
  hgvsp: ENSP00000451193.1:p.Asp667Glu
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1986C>A
  hgvsp: ENSP00000373654.1:p.Asp662Glu
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18834
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 178
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21253
  bin: 7.5e0
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 10374
  bin: 1.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1256
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 914
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.75e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4419
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
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genotype quality: GenotypeQuality
  all individuals: 87
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genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 759
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genotype quality: GenotypeQuality
  all individuals: 25780
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 20045
  bin: 7.5e0
  variant carriers: 1
hgvs: p.Asp667Glu
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

15-68120285-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120285
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120285
    reference: chr 15
allele count: 1
allele frequency: 3.042102701387199e-5
allele num: 32872
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.2002G>A
  hgvsp: ENSP00000451193.1:p.Gly668Ser
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2119G>A
  hgvsp: ENSP00000369374.2:p.Gly707Ser
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.2035G>A
  hgvsp: ENSP00000452361.1:p.Gly679Ser
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1891+48G>A
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1987G>A
  hgvsp: ENSP00000373654.1:p.Gly663Ser
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21086
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10332
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25907
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 365
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genotype quality: GenotypeQuality
  all individuals: 20490
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genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 663
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genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly668Ser
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

15-68120292-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 68120292
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 68120292
    reference: chr 15
allele count: 2
allele frequency: 6.643194047698133e-5
allele num: 30106
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000452361
  ensembl transcript: ENST00000554054
  gene symbol: SKOR1
  hgvsc: ENST00000554054.1:c.2042C>T
  hgvsp: ENSP00000452361.1:p.Ala681Val
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000451193
  ensembl transcript: ENST00000554240
  gene symbol: SKOR1
  hgvsc: ENST00000554240.1:c.2009C>T
  hgvsp: ENSP00000451193.1:p.Ala670Val
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000373654
  ensembl transcript: ENST00000389002
  gene symbol: SKOR1
  hgvsc: ENST00000389002.1:c.1994C>T
  hgvsp: ENSP00000373654.1:p.Ala665Val
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000343200
  ensembl transcript: ENST00000341418
  gene symbol: SKOR1
  hgvsc: ENST00000341418.5:c.1891+55C>T
  variant of: http://identifiers.org/hgnc/21326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000188779
  ensembl protein: ENSP00000369374
  ensembl transcript: ENST00000380035
  gene symbol: SKOR1
  hgvsc: ENST00000380035.2:c.2126C>T
  hgvsp: ENSP00000369374.2:p.Ala709Val
  variant of: http://identifiers.org/hgnc/21326
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9934
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 938
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24656
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala670Val
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 485
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 28957
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GenotypeQuality
all individuals: 2199
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6326
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4884
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12002
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.776409284699195e-4
allele num: 33776
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2208
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

VQSLOD
type: SiteQuality
SIO_000300: -1.763e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

FS
type: SiteQuality
SIO_000300: 1.2242e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.24e-2

QD
type: SiteQuality
SIO_000300: 1.323e1

DP
type: SiteQuality
SIO_000300: 6.23515e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.12e-1

MQ
type: SiteQuality
SIO_000300: 5.896e1

GenotypeQuality
all individuals: 10
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 103
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GenotypeQuality
all individuals: 113
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1936
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4388
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11634
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 30654
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.453e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.79707e5

MQ
type: SiteQuality
SIO_000300: 5.455e1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.36e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 103
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1936
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.71909919202338e-4
allele num: 11634
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.115264797507788e-4
allele num: 3210
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4388
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30654
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.455e1

DP
type: SiteQuality
SIO_000300: 5.79707e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.36e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.36e-2

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.453e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

African
type: Population
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allele frequency: 0.0e0
allele num: 3064
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5344
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 29366
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 2.388915432393693e-4
allele num: 4186
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
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VQSLOD
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SIO_000300: -1.701e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.01e0

QD
type: SiteQuality
SIO_000300: 1.882e1

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

DP
type: SiteQuality
SIO_000300: 5.63651e5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3688
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 1.359311282283643e-4
allele num: 22070
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3102
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10426
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.634e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.99e-2

FS
type: SiteQuality
SIO_000300: 5.027e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

DP
type: SiteQuality
SIO_000300: 5.00184e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10408
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3672
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22026
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3096
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.165e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 4.94029e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.02e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-1

QD
type: SiteQuality
SIO_000300: 1.529e1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 8
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 4.436557231588288e-4
allele num: 2254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3666
num of homozygotes: 0

East Asian
type: Population
allele count: 14
allele frequency: 4.527813712807244e-3
allele num: 3092
num of homozygotes: 0

South Asian
type: Population
allele count: 46
allele frequency: 4.404442742244351e-3
allele num: 10444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 14
allele frequency: 6.315409599422591e-4
allele num: 22168
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 7.911392405063291e-4
allele num: 1264
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 328
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 7.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.89e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

DP
type: SiteQuality
SIO_000300: 4.92231e5

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-2

QD
type: SiteQuality
SIO_000300: 1.092e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.944012441679627e-4
allele num: 10288
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2950
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.908667830133799e-4
allele num: 3438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21242
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.789e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.35e-2

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-1

MQ
type: SiteQuality
SIO_000300: 5.521e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.38e0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

DP
type: SiteQuality
SIO_000300: 4.79749e5

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 72
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.944012441679627e-4
allele num: 10288
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2148
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2950
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21242
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-1

FS
type: SiteQuality
SIO_000300: 1.789e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.51e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.35e-2

DP
type: SiteQuality
SIO_000300: 4.79749e5

QD
type: SiteQuality
SIO_000300: 8.23e0

MQRankSum
type: SiteQuality
SIO_000300: -1.38e0

MQ
type: SiteQuality
SIO_000300: 5.521e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.22e-1

GenotypeQuality
all individuals: 66
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 13
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variant carriers: 3

GenotypeQuality
all individuals: 34
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GenotypeQuality
all individuals: 70
bin: 7.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1256
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.113089937666963e-4
allele num: 8984
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

VQSLOD
type: SiteQuality
SIO_000300: -5.265e-1

QD
type: SiteQuality
SIO_000300: 1.605e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.44e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.39e-2

MQ
type: SiteQuality
SIO_000300: 5.177e1

DP
type: SiteQuality
SIO_000300: 3.77167e5

BaseQRankSum
type: SiteQuality
SIO_000300: -7.05e-1

FS
type: SiteQuality
SIO_000300: 6.562e0

GenotypeQuality
all individuals: 2864
bin: 6.25e1
variant carriers: 230

GenotypeQuality
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GenotypeQuality
all individuals: 363
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GenotypeQuality
all individuals: 417
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GenotypeQuality
all individuals: 246
bin: 8.75e1
variant carriers: 245

GenotypeQuality
all individuals: 684
bin: 2.75e1
variant carriers: 296

European (Non-Finnish)
type: Population
allele count: 1718
allele frequency: 2.181864363728727e-1
allele num: 7874
num of homozygotes: 102

East Asian
type: Population
allele count: 260
allele frequency: 2.363636363636364e-1
allele num: 1100
num of homozygotes: 25

Latino
type: Population
allele count: 160
allele frequency: 2.035623409669211e-1
allele num: 786
num of homozygotes: 9

African
type: Population
allele count: 48
allele frequency: 5.797101449275362e-2
allele num: 828
num of homozygotes: 0

Other
type: Population
allele count: 28
allele frequency: 1.686746987951807e-1
allele num: 166
num of homozygotes: 3

South Asian
type: Population
allele count: 940
allele frequency: 1.143274142544393e-1
allele num: 8222
num of homozygotes: 50

European (Finnish)
type: Population
allele count: 138
allele frequency: 3.689839572192513e-1
allele num: 374
num of homozygotes: 15

QD
type: SiteQuality
SIO_000300: 1.732e1

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.34e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

DP
type: SiteQuality
SIO_000300: 3.34916e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 889
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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GenotypeQuality
all individuals: 36
bin: 5.75e1
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GenotypeQuality
all individuals: 103
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GenotypeQuality
all individuals: 394
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6132
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 576
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.510000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.9499e5

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.06e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.381889763779527e-4
allele num: 4064
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 540
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7560
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 138
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.29e0

DP
type: SiteQuality
SIO_000300: 2.40602e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.099999999999999e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

MQ
type: SiteQuality
SIO_000300: 5.84e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.08641975308642e-4
allele num: 3240
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 7348
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.298e1

MQ
type: SiteQuality
SIO_000300: 5.936e1

FS
type: SiteQuality
SIO_000300: 1.5713e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-2

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

DP
type: SiteQuality
SIO_000300: 2.08597e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 1.389660922734853e-4
allele num: 7196
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2656
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 114
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.79e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.735e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.29e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.902e1

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.820000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.78237e5

QD
type: SiteQuality
SIO_000300: 1.5e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 182
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 2.810567734682406e-4
allele num: 7116
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2434
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.320000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

MQRankSum
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 2.621e0

QD
type: SiteQuality
SIO_000300: 5.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

DP
type: SiteQuality
SIO_000300: 1.38425e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

South Asian
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allele frequency: 1.407261469180974e-4
allele num: 7106
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.609999999999999e0

FS
type: SiteQuality
SIO_000300: 2.092e0

DP
type: SiteQuality
SIO_000300: 1.35416e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.03e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.76e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.25e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 1
allele frequency: 7.8125e-3
allele num: 128
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 92
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Other
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allele frequency: 0.0e0
allele num: 108
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2416
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7104
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.733e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.933e1

FS
type: SiteQuality
SIO_000300: 7.143e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.73e-2

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.33105e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2352
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South Asian
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allele frequency: 1.447178002894356e-4
allele num: 6910
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Other
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 128
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Latino
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allele frequency: 0.0e0
allele num: 88
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African
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allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 1.20549e5

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.55e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.2e-1

MQRankSum
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ReadPosRankSum
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QD
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MQ
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FS
type: SiteQuality
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VQSLOD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 98
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 168
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European (Non-Finnish)
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allele frequency: 4.63821892393321e-4
allele num: 2156
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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ClippingRankSum
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SIO_000300: 1.27e-1

DP
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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FS
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BaseQRankSum
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QD
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MQ
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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Other
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East Asian
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allele frequency: 0.0e0
allele num: 120
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European (Finnish)
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

European (Non-Finnish)
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allele num: 1888
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South Asian
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allele frequency: 1.688618709895306e-4
allele num: 5922
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DP
type: SiteQuality
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MQ
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BaseQRankSum
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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African
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allele frequency: 0.0e0
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European (Finnish)
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Other
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.01010101010101e-3
allele num: 1980
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ReadPosRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQRankSum
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FS
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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Other
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European (Non-Finnish)
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allele frequency: 4.428697962798937e-4
allele num: 2258
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South Asian
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African
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.98e-2

MQ
type: SiteQuality
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DP
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VQSLOD
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SIO_000300: -6.027e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 1.0594e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.387e0

QD
type: SiteQuality
SIO_000300: 5.65e0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2330
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.578781180928323e-4
allele num: 6334
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 84
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 146
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.464e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.106e-1

QD
type: SiteQuality
SIO_000300: 1.083e1

DP
type: SiteQuality
SIO_000300: 1.33445e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.78e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.288164665523156e-4
allele num: 2332
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6246
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 268
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 148
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 86
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.922e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.999000000000001e0

QD
type: SiteQuality
SIO_000300: 6.12e0

DP
type: SiteQuality
SIO_000300: 1.32902e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.36e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 70
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variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 6.896551724137931e-3
allele num: 290
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2404
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6058
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 158
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 90
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-2

QD
type: SiteQuality
SIO_000300: 1.542e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e-1

DP
type: SiteQuality
SIO_000300: 1.30374e5

VQSLOD
type: SiteQuality
SIO_000300: -2.163e0

FS
type: SiteQuality
SIO_000300: 1.043e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.31e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2354
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.860119047619048e-4
allele num: 5376
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.29e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.051e0

QD
type: SiteQuality
SIO_000300: 2.48e0

MQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.274e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.202e0

FS
type: SiteQuality
SIO_000300: 2.963e0

MQ
type: SiteQuality
SIO_000300: 5.833e1

DP
type: SiteQuality
SIO_000300: 1.21152e5

GenotypeQuality
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variant carriers: 185

GenotypeQuality
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variant carriers: 25

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 850

GenotypeQuality
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variant carriers: 20

East Asian
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allele count: 24
allele frequency: 1.224489795918367e-1
allele num: 196
num of homozygotes: 1

Latino
type: Population
allele count: 19
allele frequency: 1.583333333333333e-1
allele num: 120
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 20
allele frequency: 4.629629629629629e-2
allele num: 432
num of homozygotes: 0

South Asian
type: Population
allele count: 567
allele frequency: 1.108287724784988e-1
allele num: 5116
num of homozygotes: 29

Other
type: Population
allele count: 8
allele frequency: 8.163265306122448e-2
allele num: 98
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 360
allele frequency: 1.431980906921241e-1
allele num: 2514
num of homozygotes: 20

BaseQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.33167e5

VQSLOD
type: SiteQuality
SIO_000300: 5.38e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

QD
type: SiteQuality
SIO_000300: 1.568e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5074
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 96
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.703e0

DP
type: SiteQuality
SIO_000300: 1.50991e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.740000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 1.414e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2932
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 104
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.727171077152441e-4
allele num: 5366
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.032e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.749999999999999e-2

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 1.76097e5

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 636
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4
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South Asian
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allele frequency: 0.0e0
allele num: 5686
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Latino
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allele frequency: 0.0e0
allele num: 164
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Other
type: Population
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allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3186
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

MQ
type: SiteQuality
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VQSLOD
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
SIO_000300: 1.93161e5

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
allele num: 256
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African
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allele frequency: 0.0e0
allele num: 840
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 3592
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South Asian
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allele frequency: 0.0e0
allele num: 6102
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 128
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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QD
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VQSLOD
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

European (Non-Finnish)
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allele count: 1
allele frequency: 2.231146809460062e-4
allele num: 4482
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 330
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 146
num of homozygotes: 0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -7.6e-2

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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DP
type: SiteQuality
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MQ
type: SiteQuality
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QD
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 9

GenotypeQuality
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bin: 8.75e1
variant carriers: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1022
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 420
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 172
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 94
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.102839812517232e-3
allele num: 7254
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.470459518599562e-4
allele num: 1828
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.48e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.14e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 1.248e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.39456e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 19
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 6998
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 625
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2058
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.437241043139166e-4
allele num: 8206
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 520
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1186
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 1.99054491166957e-3
allele num: 8038
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

FS
type: SiteQuality
SIO_000300: 1.445e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.15e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.99e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

DP
type: SiteQuality
SIO_000300: 4.65201e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-2

GenotypeQuality
all individuals: 10460
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 741
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 7.400828892835997e-5
allele num: 13512
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.272251308900524e-4
allele num: 3056
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1212
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.69692e5

MQ
type: SiteQuality
SIO_000300: 5.903e1

QD
type: SiteQuality
SIO_000300: 1.092e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.35e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.06e-1

FS
type: SiteQuality
SIO_000300: 3.053e0

VQSLOD
type: SiteQuality
SIO_000300: -6.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.88e0

GenotypeQuality
all individuals: 10340
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 271
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2796
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9186
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.0736e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.88e0

MQRankSum
type: SiteQuality
SIO_000300: -1.098e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-2

FS
type: SiteQuality
SIO_000300: 7.14e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.403999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

GenotypeQuality
all individuals: 6
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 938
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16964
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 254
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.313452617627568e-4
allele num: 3018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 608
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.975e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.89e-2

QD
type: SiteQuality
SIO_000300: 3.082e1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 6.24507e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

FS
type: SiteQuality
SIO_000300: 4.395e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.0e-1

GenotypeQuality
all individuals: 32305
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 7
bin: 9.75e1
variant carriers: 6

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 714
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3884
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 3.590848466194727e-4
allele num: 19494
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.71e-2

DP
type: SiteQuality
SIO_000300: 6.57847e5

VQSLOD
type: SiteQuality
SIO_000300: 4.56e-1

FS
type: SiteQuality
SIO_000300: 2.441e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

QD
type: SiteQuality
SIO_000300: 1.262e1

GenotypeQuality
all individuals: 524
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.755564009891573e-5
allele num: 21028
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9948
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4024
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.899e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.59e-2

FS
type: SiteQuality
SIO_000300: 1.2958e1

MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.16e-1

DP
type: SiteQuality
SIO_000300: 6.77767e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.774e0

QD
type: SiteQuality
SIO_000300: 1.347e1

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 525
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variant carriers: 0

GenotypeQuality
all individuals: 398
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GenotypeQuality
all individuals: 989
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variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21914
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4102
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.67379679144385e-4
allele num: 3740
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 5.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.326e0

MQRankSum
type: SiteQuality
SIO_000300: -7.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-2

FS
type: SiteQuality
SIO_000300: 4.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.49e-1

DP
type: SiteQuality
SIO_000300: 6.89661e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e-1

GenotypeQuality
all individuals: 372
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
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GenotypeQuality
all individuals: 123
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 9.807767752059631e-5
allele num: 10196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22804
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4176
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3826
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.54e-2

DP
type: SiteQuality
SIO_000300: 6.9928e5

VQSLOD
type: SiteQuality
SIO_000300: -1.48e0

QD
type: SiteQuality
SIO_000300: 9.210000000000001e0

FS
type: SiteQuality
SIO_000300: 7.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.881e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.443e0

GenotypeQuality
all individuals: 291
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 5
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variant carriers: 1

GenotypeQuality
all individuals: 1056
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2710
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.506265664160401e-4
allele num: 3990
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.44e0

FS
type: SiteQuality
SIO_000300: 1.778e0

MQRankSum
type: SiteQuality
SIO_000300: -8.44e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.47e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -8.44e-1

DP
type: SiteQuality
SIO_000300: 7.13392e5

BaseQRankSum
type: SiteQuality
SIO_000300: -5.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

GenotypeQuality
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variant carriers: 5

GenotypeQuality
all individuals: 189
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15374
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GenotypeQuality
all individuals: 660
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variant carriers: 0

GenotypeQuality
all individuals: 1080
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2778
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 962
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 4.787437763309077e-4
allele num: 10444
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

DP
type: SiteQuality
SIO_000300: 7.20382e5

BaseQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

FS
type: SiteQuality
SIO_000300: 5.26e-1

QD
type: SiteQuality
SIO_000300: 1.155e1

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

GenotypeQuality
all individuals: 223
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 4.25e1
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GenotypeQuality
all individuals: 12
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 189
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10444
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2778
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24808
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 9.372071227741331e-4
allele num: 4268
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 962
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

DP
type: SiteQuality
SIO_000300: 7.20382e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.39e-2

FS
type: SiteQuality
SIO_000300: 5.26e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.02e-1

QD
type: SiteQuality
SIO_000300: 1.155e1

VQSLOD
type: SiteQuality
SIO_000300: 3.47e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 274
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25092
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4044
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.221e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.43e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.41e0

DP
type: SiteQuality
SIO_000300: 7.1987e5

GenotypeQuality
all individuals: 38
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 982
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4052
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10494
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.23931e5

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

MQ
type: SiteQuality
SIO_000300: 5.881e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.51e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.101e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 15718
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4052
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 982
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10494
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 9.328358208955224e-4
allele num: 4288
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 7.002801120448179e-4
allele num: 2856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25180
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.25e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.51e-2

DP
type: SiteQuality
SIO_000300: 7.23931e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.881e1

VQSLOD
type: SiteQuality
SIO_000300: 4.87e0

QD
type: SiteQuality
SIO_000300: 1.101e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 428
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variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.971405877680699e-5
allele num: 25180
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4288
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 982
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4052
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

MQ
type: SiteQuality
SIO_000300: 5.881e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.25e-1

QD
type: SiteQuality
SIO_000300: 1.101e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.51e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.87e0

MQRankSum
type: SiteQuality
SIO_000300: -1.44e-1

DP
type: SiteQuality
SIO_000300: 7.23931e5

GenotypeQuality
all individuals: 364
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variant carriers: 0

GenotypeQuality
all individuals: 840
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 28885
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GenotypeQuality
all individuals: 708
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2746
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24692
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4194
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 1.341510157148333e-3
allele num: 10436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 958
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4024
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.15e-1

FS
type: SiteQuality
SIO_000300: 5.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.093e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.56e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

QD
type: SiteQuality
SIO_000300: 1.081e1

DP
type: SiteQuality
SIO_000300: 7.14466e5

GenotypeQuality
all individuals: 5
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 694
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GenotypeQuality
all individuals: 115
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.959768749505029e-5
allele num: 25254
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 974
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2824
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4266
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

FS
type: SiteQuality
SIO_000300: 4.764e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.064e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.47e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.946e-1

QD
type: SiteQuality
SIO_000300: 8.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.96e-1

DP
type: SiteQuality
SIO_000300: 7.21569e5

GenotypeQuality
all individuals: 3
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 37
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variant carriers: 0

GenotypeQuality
all individuals: 1226
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GenotypeQuality
all individuals: 5
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GenotypeQuality
all individuals: 14505
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variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2824
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.344116268166901e-4
allele num: 4266
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 974
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.96e-1

FS
type: SiteQuality
SIO_000300: 4.764e0

VQSLOD
type: SiteQuality
SIO_000300: -2.946e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 7.21569e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.064e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.47e-2

QD
type: SiteQuality
SIO_000300: 8.52e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 15038
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4136
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1008
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2892
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4310
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.897e0

MQRankSum
type: SiteQuality
SIO_000300: -7.15e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.3667e1

DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 326
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 4.833252779120348e-4
allele num: 4138
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Latino
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allele frequency: 0.0e0
allele num: 2914
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 1014
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4292
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 25660
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.21875e5

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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allele frequency: 0.0e0
allele num: 10510
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European (Non-Finnish)
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allele count: 1
allele frequency: 3.937938095613137e-5
allele num: 25394
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 2856
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.018e0

VQSLOD
type: SiteQuality
SIO_000300: 2.97e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.55e-2

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4212
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4130
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.928964325003929e-5
allele num: 25452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 326
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FS
type: SiteQuality
SIO_000300: 5.756e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.178e1

MQ
type: SiteQuality
SIO_000300: 5.866e1

DP
type: SiteQuality
SIO_000300: 7.14295e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.62e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e0

VQSLOD
type: SiteQuality
SIO_000300: -1.378e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1000
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2900
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4124
num of homozygotes: 0

African
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allele count: 2
allele frequency: 4.739336492890995e-4
allele num: 4220
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.63e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.367e0

MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.063e1

DP
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 7.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.422e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4188
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.942595805078063e-5
allele num: 25364
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 986
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 314
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10520
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Latino
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allele frequency: 0.0e0
allele num: 2912
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

FS
type: SiteQuality
SIO_000300: 1.206e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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MQ
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SIO_000300: 5.925e1

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.094e0

MQRankSum
type: SiteQuality
SIO_000300: 2.51e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2932
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
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South Asian
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allele frequency: 9.489466691971911e-5
allele num: 10538
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4194
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 984
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 25476
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4152
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

DP
type: SiteQuality
SIO_000300: 7.10434e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25584
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 988
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East Asian
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allele frequency: 0.0e0
allele num: 4156
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African
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allele count: 1
allele frequency: 2.384358607534573e-4
allele num: 4194
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 2952
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10566
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.55e-1

DP
type: SiteQuality
SIO_000300: 7.10715e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.89e-1

QD
type: SiteQuality
SIO_000300: 3.42e0

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

FS
type: SiteQuality
SIO_000300: 1.423e0

VQSLOD
type: SiteQuality
SIO_000300: -2.612e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10562
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2956
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African
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1010
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 25544
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.424830261881668e-4
allele num: 4124
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.018e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.261e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 4.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 1.968503937007874e-3
allele num: 1016
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 1.053781906174381e-3
allele num: 25622
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2962
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4136
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.71e-2

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.5e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4000
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 984
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2808
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European (Non-Finnish)
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allele count: 1
allele frequency: 4.077638231936063e-5
allele num: 24524
num of homozygotes: 0

African
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allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele num: 296
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-2

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
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VQSLOD
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BaseQRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
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allele frequency: 3.615328994938539e-4
allele num: 2766
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 3954
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24276
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African
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VQSLOD
type: SiteQuality
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BaseQRankSum
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MQ
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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QD
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MQRankSum
type: SiteQuality
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FS
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DP
type: SiteQuality
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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allele num: 3914
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Latino
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Other
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allele frequency: 0.0e0
allele num: 288
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3824
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 23530
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
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DP
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FS
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MQ
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MQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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East Asian
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European (Finnish)
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South Asian
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Latino
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African
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 21930
num of homozygotes: 0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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MQ
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VQSLOD
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FS
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BaseQRankSum
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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African
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East Asian
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Latino
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European (Finnish)
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South Asian
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Other
type: Population
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 9.26e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

DP
type: SiteQuality
SIO_000300: 5.92744e5

QD
type: SiteQuality
SIO_000300: 9.789999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.262e0

GenotypeQuality
all individuals: 13993
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 521
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.207248489897938e-5
allele num: 19204
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3256
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 634
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.1781e1

VQSLOD
type: SiteQuality
SIO_000300: -1.869e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.65e-1

DP
type: SiteQuality
SIO_000300: 5.54706e5

MQRankSum
type: SiteQuality
SIO_000300: 2.76e-1

QD
type: SiteQuality
SIO_000300: 6.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 456
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2972
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17662
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 568
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9310
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.286e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 2.33e0

MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.73e-2

DP
type: SiteQuality
SIO_000300: 5.02567e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
all individuals: 74
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27234
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1758
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2886
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2852
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 5.793742757821553e-5
allele num: 17260
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.51e-1

QD
type: SiteQuality
SIO_000300: 6.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.86e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

DP
type: SiteQuality
SIO_000300: 4.9369e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.579e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.453e0

GenotypeQuality
all individuals: 1461
bin: 1.75e1
variant carriers: 4

GenotypeQuality
all individuals: 67
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 380
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 112
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 397
bin: 6.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1666
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.952569169960474e-3
allele num: 506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 1.106874923133686e-3
allele num: 16262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2724
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 1.271e1

DP
type: SiteQuality
SIO_000300: 4.73316e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.52e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

GenotypeQuality
all individuals: 94
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4479
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2638
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.108156028368794e-4
allele num: 9024
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2704
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16154
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.26e-2

QD
type: SiteQuality
SIO_000300: 1.058e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 4.695e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.129e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.04e0

MQRankSum
type: SiteQuality
SIO_000300: -7.26e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: -7.517e-1